Category Archives: Genetic Medicine

VANCOUVER, Wash., Nov. 4, 2019 /PRNewswire/ -- Wisdom Health - the world's leader in pet genetics and researchers at Purdue University today announced the most comprehensive study of dog coat color and physical trait genes ever conducted is published in PLOS ONE. The study "True Colors: commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential" found that many dog breeds carry gene variants for unexpected physical traits such as coat colors, which could randomly appear in future generations.

Thanks to the increasing popularity of at-home pet genetic testing, researchers utilized Wisdom Health's extensive database to provide insight into the physical trait variation of nearly 12,000 purebred dogs from 212 breeds, along with four wild canine species.

"As our study demonstrates, purebred dogs have so much more than meets the eye - literally. The information provided by a WISDOM PANEL dog DNA test can help us better understand the hidden elements of dog genetics," said Dr. Angela Hughes DVM PhD, veterinarian and canine genetics expert at Wisdom Health. "While our study focused primarily on purebred populations, these hidden traits can also have ramifications for mixed breed dogs. When unexpected or hidden traits are passed to mixed breed dogs from their purebred ancestors, it further complicates the already difficult task of visual breed identification making DNA tests the only reliable method of determining breed ancestry."

The study also found that the frequency of hidden gene variants in purebred dogs could provide information about the history and relatedness of certain seemingly disparate breeds - such as the Australian Shepherd and the Airedale Terrier.

"We used previously-identified genetic links between breeds to map a potential route of gene variant dispersal, such as the tailless gene variant that exists in both the Australian Shepherd and Airedale Terrier," said Dr. Kari Ekenstedt DVM PhD, assistant professor and dog genetics researcher at Purdue University's College of Veterinary Medicine. "Through genetic relationship analysis of purebred populations, we can examine the distribution of specific coat color and trait variations and help estimate a time frame for when these variations first came about. For instance, the presence of a particular allele in a wide variety of dog breeds suggests that the variant existed within domestic dogs well before pure breed development roughly 200 years ago."

Most important for future research, the study provides a baseline of trait frequency data for a given population of purebred dogs. Based on these findings, breeders can utilize DNA panel testing to identify their desired traits and avoid expression of undesirable traits in future litters.

"In many cases, the frequency of undesirable trait variants within a breed is very low. But the genetic potential to produce those traits exists, and knowing this potential can help breeders and breed organizations make informed decisions going forward," said Dr. Dayna Dreger PhD, the lead author on the PLOS ONE publication.

Wisdom Health has also simultaneously crossed another major milestone within the pet genetics industry: as of today, more than 1.5 million dogs worldwide have been tested with the WISDOM PANEL test.

"This study reveals the power of genetic testing to uncover the hidden stories of breed relationships and trait distribution across the globe," said Dr. Becca Chodroff Foran PhD, Research & Development Director at Wisdom Health. "With 1.5 million dogs tested with WISDOM PANEL and counting, our research program continues to invest in the development and discovery of actionable genetic insights to better understand and care for our beloved pets."

About the Study

About Wisdom HealthWisdom Health's mission is to facilitate responsible pet care by enhancing the well-being and relationship between pets, pet owners, breeders, shelters and veterinarians through valuable insights into pets as individuals. For more than a decade, Wisdom Health has researched and developed state-of-the-art genetic tests for companion animals, revolutionizing personalized pet care. By unlocking the secrets of their dog or cat's DNA, owners and veterinarians can work together to tailor wellness programs that fit the one-of-a-kind needs of their unique pet. For more information, visit http://www.wisdompanel.com, or follow Wisdom Panel on Facebook, Instagram and Twitter.

About KinshipAdvances in science, technology, health and nutrition offer an opportunity to transform the $100B+ pet care industry. With industry-leading data and analytics capabilities, a $100M venture fund and pioneering startup accelerator program, unique set of technology businesses like Whistle and Wisdom Health,Kinship is building the first-of-its-kind coalition of partners to transform the future of pet care. Kinship is a business division of Mars Petcare, the global leader in pet health, nutrition and services, dedicated to one purpose:A Better World for Pets. Follow @kinshipco to learn more.

About Mars PetcarePart of Mars, Incorporated, a family-owned business with more than a century of history making diverse products and offering services for people and the pets people love, the 85,000 Associates in Mars Petcare are dedicated to one purpose: A BETTER WORLD FOR PETS. With 75 years of experience, our portfolio of almost 50 brands serves the health and nutrition needs of the world's pets including brands PEDIGREE, WHISKAS, ROYAL CANIN, NUTRO, GREENIES, SHEBA, CESAR, IAMS and EUKANUBA as well as The WALTHAM Centre for Pet Nutrition which has advanced research in the nutrition and health of pets for over 50 years. Mars Petcare is also a leading veterinary health provider through a network of over 2,000 pet hospitals including BANFIELD, BLUEPEARL, PET PARTNERS, VCA, Linnaeus and AniCura. We're also active in innovation and technology for pets, with WISDOM PANEL genetic health screening and DNA testing for dogs, the WHISTLE GPS dog tracker, and LEAP VENTURE STUDIO accelerator and COMPANION FUND programs that drive innovation and disruption in the pet care industry. As a family business and guided by our principles, we are privileged with the flexibility to fight for what we believe in and we choose to fight for: A BETTER WORLD FOR PETS.

SOURCE Wisdom Health

https://www.wisdompanel.com

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First-of-its-kind study reveals genetic traits determining coat colors and physical appearance in over 200 dog breeds - PRNewswire

A woman in Colombia was destined to develop Alzheimers disease in middle age due to a genetic mutation. But she never did. In fact, she made it into her 70s showing no signs of dementia.

A few years back, the woman partook in a study at the University of Antioquia in Colombia that looked at 6,000 people that she was distantly related to. About a fifth of these participants, including the woman in question, had a genetic predisposition to Alzheimers. She carried a mutation in the gene responsible for a protein called presenilin 1, giving her a greater than 99 percent risk of developing dementia and cognitive issues in her 40s or 50s. But she remained in good cognitive health.

To satisfy the curiosity of baffled scientists, she headed to Boston in 2016 to have her brain, blood, and genome examined. Scans of her brain revealed high levels of amyloid protein, a hallmark of Alzheimers disease. However, she was symptom-free, suggesting something mysterious was protecting her from its effects.

Next, the researchers sequenced her genome, finding that she had a very rare mutation of a gene called APOE. This gene has previously been implicated in Alzheimers one variation can increase risk, another can decrease it, while the most common type has no effect. However, the woman had two copies of another variant, known as Christchurch, which was discovered in 1987 in Christchurch, New Zealand. The findings are reported in Nature Medicine.

The researchers think that the Christchurch mutation might prevent the APOE protein from binding with certain sugars, a process implicated in the build-up of amyloid proteins and tau proteins, another Alzheimers hallmark, in the brain. Therefore, a drug that inhibits this process could stave off the disease, although such a drug likely would not be available soon.

Early-onset Alzheimers affects a small minority of people and only about 5 percent of Alzheimers patients are diagnosed with it. The condition can have substantial impacts on a persons life as it tends to develop during your 40s or 50s, decades before Alzheimers symptoms usually start to set in. Alzheimers is a progressive disease, meaning that symptoms like memory loss, confusion, and delusions get worse over time. Theres currently no cure, so gaining a better understanding of what causes the condition is key.

Sometimes close analysis of a single case can lead to a discovery that could have broad implications for the field, said National Institute of Aging Director Richard J. Hodes in a statement. We are encouraged that as part of our wide array of studies, this research in the unique genetic makeup of an exceptional individual can reveal helpful information.

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Colombian Woman In Her 70s Immune' To Alzheimer's Thanks To Rare Genetic Mutation - IFLScience

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Newswise Hard-to-study mutations in the human genome, called short tandem repeats, known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel disease and even height and intelligence.

Thats the conclusion of a study published in the Nov. 1 issue of Nature Genetics by a team of researchers at the University of California San Diego. They were led by Melissa Gymrek, a UC San Diego professor of computer science and medicine, and Alon Goren, a UC San Diego professor of medicine.

Short tandem repeats are composed of sequences of between one to six of the DNAs basic components, called nucleotides, repeat over and over again, sometimes up to hundreds or thousands of times.

These mutations have already been implicated in about 30 conditions. The best known is perhaps Huntingtons Disease, which causes the progressive breakdown of nerve cells in the brain. About 30,000 people suffer from the condition in the United States. These people all have more than 40 copies of a specific repeat, known as the CAG trinucleotide. The more copies they have, the sooner they are affected by the disease and the more severe it is.

But until now, mostly due to lack of proper datasets, genome-wide studies of the effects of short tandem repeats on gene expression had only found limited connections.

In this study, by leveraging whole genome sequencing and expression data for 17 tissues from the Genotype-Tissue Expression Project (GTEx) the team identified short tandem repeats in which the expression of nearby genes is impacted by the number of occurrences of the repetitive units in the genome. Researchers named these eSTRs expression associated short tandem repeats. They found more than 28,000 such expression associated short tandem repeats in the genome.The 28,000 eSTRs can be found at http://webstr.gymreklab.com/ The website allows users to interactively explore eSTR results as well as additional information for each STR, including mutation rates and genetic variation across different populations.

Overall, our results support the hypothesis that these mutations contribute to a range of human phenotypes and will serve as a valuable resource for future studies of complex traits, Gymrek said.

The group then used statistical methods to measure the probability that each of these effects is significant. By doing so, they identified hundreds of such eSTRs which are responsible for effects previously found by whole-genome analysis studies. The study results implicate specific repeat mutations in traits including height and schizophrenia, inflammatory bowel disease and intelligence.

The study is a significant step towards understanding the ways cells interpret the differences in the number of occurring repeats to change the activity of genes, said Goren. For instance, higher number of such repeats can modify the ability of activating proteins to bind to the genome and induce the expression of the gene.

Continued here:
Hard to study mutations implicated in the expression of genes associated with schizophrenia and more - Newswise

Press release: Anivive Lifesciences

Anivive Lifesciences, a pet pharmaceutical company, and Basepaws, a pet DNA sequencing company, have formed a new partnership to study feline genetics and diabetes. The companies are encouraging veterinarians and cat owners interested in participating to sign up online.

Participants will not only be helping advance feline diabetes research, but they will also receive a free genetic breed and health report about their cat, said Anivives founder and CEO, Dylan Balsz. We are excited to work directly with cat owners to increase our understanding of diabetes. This partnership underscores how Anivives software is accelerating the development of new pet medicines.

Feline diabetes is a growing problem, but available treatments are expensive and rely mostly on symptom control through insulin therapy and dietary management, explained Anivives chief medical officer David Bruyette, DVM, DACVIM. There is currently no clear understanding of the contribution of genetic factors to feline diabetes. This study offers cat owners the opportunity to take a direct role in developing genetics-based precision medicine tools aiming to improve and extend the lives of diabetic cats.

Beginning today, owners can visit the website to complete a short survey about their cats health. Anivive will mail eligible participants a free DNA collection kit. After collecting a DNA sample (a single saliva swab from their cats mouth), owners mail the kit back with pre-paid postage. Anivive and Basepaws are covering the entire cost of the study, including the genetic test ($129 value).

As a consumer pet health company, we focus on partnering with innovative companies like Anivive, who are leading research to advance our understanding of feline biology and improve the health management of cats around the world, said Basepaws chief veterinary officer Chris Menges, DVM, MPH.

Pet owners and their cats will help advance the development of new, targeted and potentially disease-modifying therapies, as well as genetics-based diagnostic tools for feline diabetes.

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Anivive, Basepaws Partner to Study Feline Genetics and Diabetes - Pet Age

The Pulmonary Fibrosis Foundation (PFF) announced a research initiative that aims to expand precision medicine strategies for diagnosing and treatingidiopathic pulmonary fibrosis (IPF).

The study, called PRECISIONS (for Prospective tReatmentEffiCacy inIPF uSIng genOtype forNacSelection), is being funded by a$22 milliongrant from the National Institutes of HealthandThree Lakes Partners, a philanthropic organization dedicated to pulmonary fibrosis care and research.

PRECISIONShas three primary goals.First, it aims to determine whether N-Acetyl-cysteine (NAC) is an effective treatment for individuals with IPF who have a particular variant of the geneTOLLIP, known to play a role in lung immunity.

NAC is an antioxidant, and it has been suggested in can lessen lung damage in IPF, although its efficacy is far from clear, with studies finding conflicting results.Previous researchsuggested that this may be because NAC is only effective in individuals with particular genotypes. Specifically, the variantTOLLIPrs3750920T/T, which is present in around a quarter of people with IPF, is associated with better clinical responses to NAC. PRECISIONS aims to directly test this association.

The second goal of PRECISIONS is to develop blood-based assays to help distinguish IPF from other lung diseases with similar symptoms. This will be accomplished by using unbiased analyses of transcriptomics (which genes are off and on in cells), proteomics (global analysis of proteins in the blood), and other large-scale molecular analyses, in order to identify molecular signatures that are linked with IPF. Such biomarkers could help in predicting an individuals disease course and response to therapy.

PRECISIONSthird and final goal is to identify genetic variants that influence an individuals risk of developing IPF, which may prove useful in monitoring people at a high risk of the disease.

This innovative study highlights the value of a partnership between a broad range of investigators, the PFF, a philanthropic organization (Three Lakes Partners), and the National Heart, Lung, and Blood Institute (NHLBI). Most importantly, it seeks to provide patients with interstitial lung disease (ILD) access to personalized medicine in which the right medication is used for the right patient,Fernando Martinez, MD, one of the researchers leading the project, said ina press release.

The project will rely on the PFF Patient Registry and Biorepository, which have collected clinical data and biological samples from over 2,000 pulmonary fibrosis patients.

The PFF Patient Registry will serve as an invaluable tool to facilitate more efficient enrollment into the NAC pragmatic trial, and to further define the genetic risk factors influencing the development and potential progression of the disease, saidGregory Cosgrove, MD, chief medical officer at PFF. It will hopefully allow for the identification of important biomarkers to assist in the diagnosis and care of patients with PF.

Added Imre North, MD, a co-principal investigator on the project:PRECISIONS has the potential to really change the scientific landscape over how we view IPF and ILDs by providing molecular classifications while determining if a pharmacogenetically driven treatment can change outcomes.

Marisa holds an MS in Cellular and Molecular Pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. She specializes in cancer biology, immunology, and genetics. Marisa began working with BioNews in 2018, and has written about science and health for SelfHacked and the Genetics Society of America. She also writes/composes musicals and coaches the University of Pittsburgh fencing club.

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Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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PFF-supported PRECISIONS Study Aims to Bring Personalized Treatment to IPF - Pulmonary Fibrosis News

Gene therapy has traditionally been applied to well-understood diseases where a single genetic mutation was to blame. A new generation of technology is expanding the potential of gene therapy to treat conditions that were previously unreachable.

Since the first gene therapy clinical trials in the 1990s, the technology has made its way into the market for conditions ranging from blindness to cancer.

Gene therapy has the potential to fix any genetic mutation causing disease by inserting a new copy of the faulty gene. However, its reach has historically been limited.

Weve been constrained with the things we can do with gene therapy, said Dmitry Kuzmin, Managing Partner at 4BIO Capital, a London-based VC that specifically invests in advanced therapies. If you look across the successes in gene therapy in the last five years, most of these were in diseases that are pretty straightforward from the engineering perspective.

Technical limitations have meant that gene therapy has been restricted to rare diseases caused by a single genetic mutation, as well as to certain areas of the body, such as the eye and the liver.

According to Kuzmin, there have been so far three generations of gene therapy technology. Generation one would be classic single-gene replacement, such as Luxturna, a gene therapy to fix a specific genetic mutation causing blindness. Generation two would consist of using gene therapy to introduce new functions. An example is Kymriah, where immune cells are equipped with a molecule that helps them hunt down cancer cells.

The third generation is the one that could hold the key to unlocking the full potential of gene therapy. It englobes several technologies that can be used to introduce a new drug target into the patient, making it possible to turn the therapy on and off as well as to tune its intensity.

As the first two generations get optimized and the third generation enters the clinic, we are now expanding our reach into areas that have been previously rather inaccessible, Kuzmin told me. One of them is the brain.

Treating the brain has long been a huge challenge for medicine. Take epilepsy, for example.

Epilepsy affects 1% of the whole population and about 30% of people with seizures of epilepsy continue to have seizures despite medication, said Dimitry Kullmann, Professor at University College London. Theres a paradox. We have a good understanding of the mechanisms behind epilepsy, but were unable to suppress seizures in a significant proportion of people with epilepsy.

The reason is that the molecules that we use for drugs dont target the epileptic zone of the brain; they bathe the entire body with medication, Kullmann told me. These drugs dont differentiate between neurons and synapses that derive the seizures, and those parts of the brain that are responsible for memory, sensory functions, motor functions and balance.

Gene therapy could provide a solution for this problem. Kullmanns group has been researching this approach for years and is now getting ready to start the first clinical trial in humans within a year.

A gene therapy can be directly injected in the area of the brain causing seizures. Furthermore, using DNA sequences called promoters, it is possible to restrict the effect of gene therapy to specific neurons within that area. In the case of epilepsy, gene therapy can be used to decrease the activity of only excitatory neurons, which cause epileptic seizures when they are overactive.

Another approach that Kullmans group is testing is chemogenetics. The idea here is to use gene therapy to put a specific receptor into the neurons, explained Kullmann. This receptor is designed to respond to a drug that, when given to the patient, decreases the activity of the neuron to suppress seizures.

The advantage is that you can switch on and off the therapeutic effect on demand by just giving, or not giving the drug, Kullmann said. This approach can thus make gene therapy more precise, being able to tune it to the specific needs of each patient. In addition, it reduces the big challenge of getting the dose right in a one-off treatment.

Ultimately, this technology could allow scientists to target a wide range of conditions that come under the umbrella of epilepsy, rather than just a specific form of the condition caused by a genetic mutation.

The approach could be extended to other conditions involving the brain, such as Parkinsons, ALS and pain. However, this kind of research is still at an early stage and it will take a while until its potential is proven in humans.

Blindness has been a major target of gene therapy because of the fact that the eye is an ideal target for this technology. The activity of the immune system is suppressed in the eye, minimizing the chances of rejection. In addition, unlike other cells in the body, those involved in vision are not renewed over time, being able to retain the injected DNA for years.

However, there are hundreds of genetic mutations that can cause blindness. With the classical gene therapy approach, a different therapy would have to be developed from scratch for each mutation. While some companies are doing just this for the most common mutations causing blindness, many other less frequent mutations are being left behind.

Others are turning to new generations of gene therapy technology. We figured out that it would be very, very difficult to use the classical gene therapy approach in each individual mutation, said Bernard Gilly, CEO of GenSight, a Parisian biotech developing gene therapies for blindness.

While the companys leading programs follow this classical approach, the company has also started clinical trials using a technology called optogenetics. Following a similar principle to gene therapy, optogenetics consists of introducing a protein that reacts to light into a cell.

GenSight is using optogenetics to develop a single therapy for the treatment of retinitis pigmentosa. This genetic condition can be caused by mutations in any of over 200 genes and results in progressive vision loss in children due to the degeneration of photoreceptor cells that perceive light and send signals to the brain.

With optogenetics, it would be possible to transfer the lost photoreceptor function to the cells in the retina that are responsible for relaying visual information to the brain. Using specialized goggles, the images captured by a camera are transformed into light patterns that stimulate these cells in the precise way needed for the brain to form images.

The company is currently testing this approach in clinical trials. We believe that this approach will allow us to restore vision in those patients who became blind because of retinitis pigmentosa, Gilly told me.

Optogenetics would not work a miracle, but it might be able to give people back the ability to navigate an unknown environment with a certain level of autonomy. Recognizing faces is a more challenging goal; although reading is not yet on the horizon, according to Gilly.

Still, the potential of optogenetics to address multiple genetic mutations with a single treatment might be revolutionary. As long as the neurons responsible for sending light signals to the brain are intact, this approach could be extended to other forms of blindness. In addition, conditions affecting the brain such as epilepsy, Parkinsons or ALS could be treated with this approach by introducing an implant to shine light on the target neurons.

However, approaches applying optogenetics to the brain are still further down the line. While optogenetics technology has been around for over 20 years, its application in humans is still very limited and in the early stages of research.

Chemogenetics and optogenetics are just two out of a wave of new technologies addressing the historical limitations of gene therapy. Other approaches are in development, such as using thermogenetics, which consists of introducing proteins that are activated by the heat created by infrared light.

With a growing range of tools available, it is becoming easier than ever for scientists to develop gene therapies that can address the specific challenges of different conditions affecting areas of the body. Traditionally, locations such as the heart, the lungs or the pancreas have been particularly difficult to target with gene therapy. That might soon stop being the case.

As we go forward, were interested in taking gene therapy out of this little box and trying to use all the knowledge we have to benefit patients in larger indications, said Kuzmin.

As gene therapy expands into more mainstream conditions, it could take precision medicine to a whole new level and help address the big variability that is often seen across patients with the same diagnosis.

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How Gene Therapy Is Evolving to Tackle Complex... - Labiotech.eu